NTCC® NA20273 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA20273

Name：NTCC® NA20273 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA20273
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄:
Gender性别: Male
Description描述: GAUCHER DISEASE, TYPE II | GLUCOSIDASE, ACID BETA; GBA
Remarks: Clinically affected; fetal hydrops; hepatosplenomegaly noted prenatally; abnormal fetal movements in utero; congenital ichthyosis; infant died within 2 hours of birth; autopsy revealed colloidin-type skin, ectropia of eyes, flattened nose, absent palmar and distal pharyngeal flexure creases, flexion deformities of the left fifth finger and knee, low-set ears, hypoplastic nails and digits, massive hepatosplenomegaly, bilateral eventration of the diaphragm, ventricular septal defect, and biventricular hypertrophy; neonatal blood testing revealed thrombocytopenia, markedly raised white cell count, raised alkaline phosphatase, raised lactate and pyruvate; biopsies from all organs showed infiltration with cells characteristic of Gaucher's; leucocyte B-glucocerebrosidase activity was markedly deficient; donor subject is homozygous for a recombinant allele due to a crossover at the end of exon 9 or the beginning of intron 9 between the GBA gene and its pseudogene.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: GBA
Disease疾病类型:
Mutations突变: RECOMBINANT (EXON 9)
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
References参考文献:

Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net